A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675028



Internal ID15079398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151430754..151430766hg38UCSC Ensembl
Innerchr3:151430745..151430775hg38UCSC Ensembl
Outerchr3:151430733..151430784hg38UCSC Ensembl
chr3:151148542..151148554hg19UCSC Ensembl
Innerchr3:151148533..151148563hg19UCSC Ensembl
Outerchr3:151148521..151148572hg19UCSC Ensembl
chr3:152631232..152631244hg18UCSC Ensembl
Innerchr3:152631253..152631223hg18UCSC Ensembl
Outerchr3:152631211..152631262hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386023
hg196023
hg186023
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425867
Supporting Variants
SamplesNA19240
Known GenesMED12L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675028
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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